rs767568897
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Unaffected carrier of a Lipoyltransferase 1 deficiency mutation (severe) |
(T;T) | 9 | Lipoyltransferase 1 deficiency (severe) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 99162169 |
Gene | LIPT1, MITD1 |
is a | snp |
is | mentioned by |
dbSNP | rs767568897 |
dbSNP (classic) | rs767568897 |
ClinGen | rs767568897 |
ebi | rs767568897 |
HLI | rs767568897 |
Exac | rs767568897 |
Gnomad | rs767568897 |
Varsome | rs767568897 |
LitVar | rs767568897 |
Map | rs767568897 |
PheGenI | rs767568897 |
Biobank | rs767568897 |
1000 genomes | rs767568897 |
hgdp | rs767568897 |
ensembl | rs767568897 |
geneview | rs767568897 |
scholar | rs767568897 |
rs767568897 | |
pharmgkb | rs767568897 |
gwascentral | rs767568897 |
openSNP | rs767568897 |
23andMe | rs767568897 |
SNPshot | rs767568897 |
SNPdbe | rs767568897 |
MSV3d | rs767568897 |
GWAS Ctlg | rs767568897 |
Max Magnitude | 9 |
rs767568897, also known as c.212C>T, p.Ser71Phe and S71F, represents a rare mutation in the LIPT1 gene on chromosome 2.
Recessively inherited, mutations in the LIPT1 gene are considered causative for lipoyltransferase 1 deficiency, a severe metabolic disorder often leading to death soon after birth.
ClinVar | |
---|---|
Risk | rs767568897(G;G) Rs767568897(T;T) |
Alt | rs767568897(G;G) Rs767568897(T;T) |
Reference | Rs767568897(C;C) |
Significance | Pathogenic |
Disease | Lipoyltransferase 1 deficiency |
Variation | info |
Gene | LIPT1 |
CLNDBN | Lipoyltransferase 1 deficiency |
Reversed | 0 |
HGVS | NC_000002.11:g.99778632C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000170326.3, |